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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:erythrokeratodermia variabilis et progressiva 6
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Accession:DOID:0080766 term browser browse the term
Definition:An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: EKVP6
 broad_synonym: TRPM4-related disorder
 primary_id: OMIM:618531
For additional species annotation, visit the Alliance of Genome Resources.


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erythrokeratodermia variabilis et progressiva 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6 OMIM
ClinVar
PMID:28492532 PMID:30528822 NCBI chr 1:101,293,300...101,323,484
Ensembl chr 1:101,293,409...101,323,960
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    sensory system disease 5599
      skin disease 2948
        Erythema 59
          erythrokeratodermia variabilis 8
            erythrokeratodermia variabilis et progressiva 6 1
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      nervous system disease 12094
        sensory system disease 5599
          skin disease 2948
            Erythema 59
              erythrokeratodermia variabilis 8
                erythrokeratodermia variabilis et progressiva 6 1
paths to the root